Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy.
Skin biopsies of three patients with Lafora disease (clinically typical and proven by liver biopsy) showed PAS-positive inclusions in numerous peripheral cells of eccrine sweat ducts. By electronmicroscopy, the inclusions consisted of polyglucosan-type material; they were not bounded by a membrane. Skin biopsy should be a convenient method of diagnosing Lafora disease.
D000293:Adolescent; D000328:Adult; D001706:Biopsy / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000473:pathology*; D004853:Epoxy Resins; D006801:Humans; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology*; D013545:Sweat Glands / Q000473:pathology* / Q000648:ultrastructure
D004853:Epoxy Resins